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Relevant bibliographies by topics / Atypical Rett Syndrome form

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Academic literature on the topic 'Atypical Rett Syndrome form'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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Journal articles on the topic "Atypical Rett Syndrome form"

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Kochański, Bartosz, Anna Plaskiewicz, Krystian Kałużny, et al. "Atypical Rett syndrome form – case study = Nietypowa postać zespółu Retta – opis przypadku." Journal of Education, Health and Sport 5, no. 2 (2015): 173–78. https://doi.org/10.5281/zenodo.15846.

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<strong>Kochański Bartosz, Plaskiewicz Anna, Kałużny Krystian, Pawlicka Aleksandra, Smuczyński Wojciech, Hagner‑Derengowska Magdalena, Zukow Walery, Hagner Wojciech. Atypical Rett syndrome form – case study = Nietypowa postać zespółu Retta – opis przypadku. </strong><strong>Journal of Education, Health and Sport. </strong><strong>2015;5(2):173-178. </strong><strong>ISSN 2391-8306</strong><strong>. </strong><strong>DOI: 10.5281/zenodo.15846</strong> <strong>http://ojs.ukw.edu.pl/index.php/johs/article/view/2015%3B5%282%29%3A173-178</strong> <strong>https://pbn.nauka.gov.

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Pozzi, Cristina M., and Sergio Rosemberg. "Rett syndrome: clinical and epidemiological aspects in a Brazilian institution." Arquivos de Neuro-Psiquiatria 61, no. 4 (2003): 909–15. http://dx.doi.org/10.1590/s0004-282x2003000600004.

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Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 2

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Haas, Richard H., and Seth Love. "Peripheral Nerve Findings in Rett Syndrome." Journal of Child Neurology 3, no. 1_suppl (1988): S25—S30. http://dx.doi.org/10.1177/0883073888003001s06.

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Sural nerve and peroneus brevis muscle biopsies were studied in 12 patients with Rett syndrome, ten with the typical form of the disorder according to 1985 criteria, and two with atypical features. Ages ranged from 23 months to 25 years. All stages of the disease were represented. There was evidence of a mild axonal neuropathy in seven of 12 patients. Degenerative and occasional regenerative changes were seen in five sural nerve biopsies, including one from the youngest patient in the series, who was normally nourished and fully ambulatory. Occasional nonspecific ultrastructural abnormalities

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Orimoto, K., T. Matsuishi, and K. Yuge. "An atypical form of RETT syndrome (RTT) patient exhibited dystonia and characteristic psychological/behavioral dysfunctions." Journal of the Neurological Sciences 381 (October 2017): 459. http://dx.doi.org/10.1016/j.jns.2017.08.3505.

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Nectoux, J., D. Heron, M. Tallot, J. Chelly, and T. Bienvenu. "Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome." Clinical Genetics 70, no. 1 (2006): 29–33. http://dx.doi.org/10.1111/j.1399-0004.2006.00629.x.

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Halushko, Oleksandr, and Maryana Bolyuk. "Acute Coronary Syndrome in Patients with Diabetes mellitus: Features of the Course and Manifestations of Pain Syndrome." Family Medicine, no. 1-2 (April 29, 2022): 13–18. https://doi.org/10.30841/2307-5112.1-2.2022.260497.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization for patients with diabetes mellitus (DM). Due to development of diabetic neuropathy, it is believed that this category of patients is characterized by a high frequency of atypical acute coronary syndrome, but data on this are quite contradictory. <strong>The objective:</strong> to determine the features of the pain syndrome and its severity in patients with acute coronary syndrome and concomitant diabetes. <strong>Materials and methods.</strong> The study involved 36 patients with diabetes (22 men and 14 women) a

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Athira T. Sasidharan, Dileep KS, and PV Giri. "An Ayurvedic Approach in Improving the Quality of Life in Atypical Parkinsonism - A Case Report." Journal of Ayurveda and Integrated Medical Sciences 9, no. 11 (2025): 283–89. https://doi.org/10.21760/jaims.9.11.40.

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Atypical parkinsonism is another form of parkinsonism, which is having a more widespread pathology than seen in Parkinson’s disease. A group of neurodegenerative conditions including Multiple system atrophy (MSA), Progressive supranuclear palsy (PSP), and Corticobasal syndrome (CBS) constitute this form of parkinsonism. Due to the widespread pathology including degeneration of striatum, globus pallidus, cerebellum, and brainstem, as well as the SNc, the clinical features tend to resemble to that of Parkinson’s disease, but different manifestations are seen. Early involvement of speech and gait

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Goutières, Françoise, Jean Aicardi, John M. Opitz, and James F. Reynolds. "Atypical forms of rett syndrome." American Journal of Medical Genetics 25, S1 (1986): 183–94. http://dx.doi.org/10.1002/ajmg.1320250521.

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Epperson, Madison V., Michael E. Haws, Shannon M. Standridge, and Donald L. Gilbert. "An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A." Journal of Child Neurology 33, no. 4 (2018): 286–89. http://dx.doi.org/10.1177/0883073818754987.

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Background: Some typical and atypical Rett syndrome patients lack known genetic mutations. Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy, familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome. Patient Description: The authors describe a female patient with developmental regression and a de novo, likely pathogenic mutation in CACNA1A who meets 3 of 4 main criteria (stereotypic hand movements, loss of purposeful hand movements, gait disturbance), and 6 of 11 supportive criteria (impaired sleep, ab

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Boliuk, Mariana, and Oleksandr Halushko. "Acute coronary syndrome in elderly and senile diabetic patients." issue 2 2024, no. 2 2024 (May 2, 2024): 66–72. http://dx.doi.org/10.47855/jal9020-2024-5-8.

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Acute coronary syndrome (ACS) remains a common cause of hospitalization in diabetes mellitus (DM) patients. It is believed that diabetic neuropathy patients have a high atypical course incidence of acute coronary syndrome, because of the frequent neuropathy development in diabetes patients, but the data on this are quite contradictory. Aim: The study aimed to determine the features of the pain syndrome and its severity in ACS and concomitant diabetes patients. Materials and Methods: The study involved 36 diabetes patients (22 men and 14 women) aged 62-86 years, hospitalized urgently for ACS. P

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Dissertations / Theses on the topic "Atypical Rett Syndrome form"

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Arumugam, Ganeshkumar [Verfasser], and Tanja [Akademischer Betreuer] Vogel. "Role of noncoding RNAs in FOXG1 dependent atypical Rett syndrome." Freiburg : Universität, 2020. http://d-nb.info/1237220637/34.

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Books on the topic "Atypical Rett Syndrome form"

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Smith-Hicks, C. L., and S. Naidu. Rett Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0054.

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Rett Syndrome (RTT) is a neurodevelopmental disorder that predominantly affects females but males with RTT have been identified. RTT was first described by an Austrian pediatrician, Andreas Rett. Rett syndrome was mapped to chromosome Xq28 in 1998 and a year later it was determined to be due to mutations in the MeCP2 gene at this locus. Identification of the gene led to the broadening of the clinical phenotype and further characterization into classic and atypical forms of the disease that overlap with Autism spectrum disorders during the period of regression. More than 95% of individuals with

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Book chapters on the topic "Atypical Rett Syndrome form"

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Hulten, M. A. "The Rett syndrome: a proposed mechanism of genetic origin and inheritance." In Rett Disorder and the Developing Brain. Oxford University PressNew York, NY, 2001. http://dx.doi.org/10.1093/oso/9780192630834.003.0005.

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Abstract There can be no doubt that the Rett syndrome (RTT, McKusick Catalogue No. 312750) affects females primarily, occurring with an incidence of around 1 per 10 to 15 000 new-born girls (Akesson et al. 1996). In the British Survey, conducted by Kerr, of 640 recorded Rett cases, 531 (83 ) were classic and 109 (17 ) atypical (in 1999) (see Chapter 1). In congruence with observations elsewhere, the majority of these RTT cases are sporadic, and there are only a few families having more than one affected RTT child. Nevertheless, not only RTT concordance between identical twin sisters and the oc

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Wigram, Tony, and Cochavit Elefant. "Therapeutic dialogues in music: Nurturing musicality of communication in children with autistic spectrum disorder and Rett syndrome." In Communicative Musicality. Oxford University PressOxford, 2008. http://dx.doi.org/10.1093/oso/9780198566281.003.0019.

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Abstract The development of clinical music therapy over the past 50 years has equipped the trained practitioner with methods and techniques for using both precomposed and improvised music in ways that have wide application (Bruscia 1987; Wigram 2004; Wigram et al. 2002). In Europe, a tradition of improvised music-making—stimulating dialogues of expression in musical form— promotes the development of a musical relationship between a therapist and a patient or group of patients (Alvin 1975; Nordoff and Robbins 1977; Priestley 1994). Listening to precomposed music, and singing or composing songs,

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"Part III: Case Studies." In Atypical Diabetes: Pathophysiology, Clinical Presentations, and Treatment Options. American Diabetes Association, 2018. http://dx.doi.org/10.2337/9781580406666.partiii.

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The following 21 cases of atypical diabetes highlight clinical presentation of diabetes in patients with endocrinopathies, immune-mediated pathogenesis of diabetes, diabetes of unknown cause, and diabetes arising in patients with other genetic diseases. Cases 44 through 49 spotlight frequent development of diabetes in patients with other endocrine diseases, such as acromegaly, Cushing's syndrome, pheochromocytoma, and glucagonoma. Successful therapy of the underlying disease in these cases usually dramatically improves or completely normalizes glycemic control. Patients with latent autoimmune

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Iwata, Kazuya. "Psychopharmacology." In Oxford Assess and Progress: Psychiatry. Oxford University Press, 2014. http://dx.doi.org/10.1093/oso/9780199665662.003.0015.

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Psychotropic drugs are the main form of physical treatment in psychiatry and they exert their action by mainly acting on dopamine, noradrenaline, serotonin, and muscarinic receptors. Antipsychotics, which are the mainline treatment for psychotic illnesses, usually act by blocking dopamine receptors in the dopamine pathways of the brain, usually the mesolimbic system. The D2 receptors are the usual target of the antipsychotics, although clozapine, which is considered the gold standard antipsychotic, has a strong affinity for the D4 receptors. The underlying principle of antipsychotic treatment

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Vuković Brinar, Ivana, and Matija Matošević. "Complement-Mediated Kidney Disease." In Novel Topics in the Diagnosis, Treatment, and Follow-Up of Nephritis, Nephrotic Syndrome, and Nephrosis [Working Title]. IntechOpen, 2022. http://dx.doi.org/10.5772/intechopen.108555.

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From very discovery of the complement cascade, it had an intriguing role in pathophysiology of kidney disease. The hallmark of complement cascade involvement in kidney diseases comprises of immune-complexes deposits in the glomeruli, acting as activation for the classical pathway. However, additional mechanisms of complement activation, namely alternative and lectin pathways are extremely important and prominent in complement-mediated kidney disease. Disease prototype of activation of complement is an atypical hemolytic uremic syndrome with solid activation of complement and C3 glomerulopathy

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"Introduction." In Atypical Diabetes: Pathophysiology, Clinical Presentations, and Treatment Options. American Diabetes Association, 2018. http://dx.doi.org/10.2337/9781580406666.intro.

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Classification of diabetes includes a long list of common, rare, and not-so-rare conditions characterized by hyperglycemia of variable degrees. Whereas the majority of patients with diabetes are easily classified as having type 1 or type 2 diabetes, the other forms of diabetes, in aggregate, account for approximately 10% of diabetes cases. These cases may be grouped under the umbrella of rare forms of diabetes or “atypical diabetes.” Even though individually rare, these atypical types of diabetes are frequent enough that every practitioner is likely to encounter such cases in his or her practi

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Mehtani, Rohit, and Sunil Taneja. "Gastrointestinal and Hepatobiliary Manifestations of COVID-19." In COVID-19: Effects in Comorbidities and Special Populations. BENTHAM SCIENCE PUBLISHERS, 2022. http://dx.doi.org/10.2174/9789815036367122010006.

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The world in 2020 has witnessed the spread of a novel coronavirus, the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), which typically involves the respiratory tract causing symptoms like fever, cough and shortness of breath and, in severe cases leading to the development of acute respiratory distress syndrome (ARDS). As the disease has evolved across the globe, a large number of patients are being recognised with atypical symptoms, including abdominal pain, nausea, vomiting and diarrhea. Involvement of liver in form of elevated aminotransferases and association of increased seve

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Johnston, Deirdre. "Neuroleptics." In Psychiatric Aspects of Neurologic Diseases. Oxford University Press, 2008. http://dx.doi.org/10.1093/oso/9780195309430.003.0025.

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The ‘‘neuroleptic’’ antipsychotic group of pharmacologic agents was so named because the original agents, now called ‘‘conventional’’ antipsychotics, produced significant neurologic side effects in the form of extrapyramidal symptoms (EPS). However, neuroleptics were the first drugs to be effective in treating psychosis and remain the cornerstone of pharmacologic management of psychotic symptoms, whether such symptoms are primary or arise in the context of neurologic disorders. Although the only U.S. Food and Drug Administration (FDA)–approved use of antipsychotic agents is for the treatment o

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McKnight, Rebecca, Jonathan Price, and John Geddes. "Child and adolescent psychiatry: specific disorders." In Psychiatry. Oxford University Press, 2019. http://dx.doi.org/10.1093/oso/9780198754008.003.0040.

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This chapter describes common and/ or important mental health disorders seen in children and adolescents. More general information about classification, aetiology, assessment, and management is discussed in Chapter 17. Many of the psychiatric problems seen in adolescence are the common disorders of adulthood; in the latter part of the chapter, these are briefly covered, identifying adolescent- specific presentation or treatment with reference to the general information in relevant chapters on adults. Mental disorders are very common in childhood and adolescence; meta- analysis data from inte

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Conference papers on the topic "Atypical Rett Syndrome form"

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Lee, Annelise Akemi Higa, Felipe Teijeiro Cabral, Francisco Tomaz Meneses de Oliveira, and Rubens José Gagliardi. "Guillain Barré syndrome in late lupus: case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.557.

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Context: In the literature, there are few cases of Guillain Barré syndrome (GBS) in association with systemic lupus erythematosus (SLE). There is description of 19 neuropsychiatric syndromes associated with SLE, 12 of the central nervous system (CNS) and 7 of the peripheral nervous system (PNS). 10% of the patients with SLE and neurological manifestations have PNS complications. SLE is considered to have a late onset when it starts above 50 years of age and it consists in, on average, 26% of the total of individuals with SLE, however, in contrast to juvenile lupus, the number of studies is sca

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Souto, Emília Correia, Carolina Maria Marin, Gustavo Carvalho Costa, et al. "Family with atypical Parkinsonism due to CHCHD10 gene mutation." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.502.

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Introduction: Parkinson’s disease - PD is the second most common agerelated neurodegenerative disorder. Characterized by a variety of motor and non-motor symptoms that relate to the loss of dopaminergic neurons in the midbrain black substance. Although most cases of PD are sporadic, 5–10% of patients have monogenetic mutations with a description of more than 20 genes for the familial form. Mitochondrial mutation in CHCHD10 has also been reported to be associated with a wide spectrum of neurodegenerative disorders, including PD. Objectives: Description of a rare recently described genetic cause

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Minić-Vasić, Jelena, Mirjana Dimitrijević, Jelena Gluvakov, et al. "Routine serological testing for determination of EBV infection." In Proceedings of the International Congress Public Health - Achievements and Challenges. Institute of Public Health of Serbia "Dr Milan Jovanović Batut", 2024. http://dx.doi.org/10.5937/batutphco24030m.

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Background: Epstein-Barr virus (EBV) or human herpesvirus 4 is one of the most common human widespread viruses, infecting more than 90% of the world's population. After primary infection, which is often unrecognized or asymptomatic, the virus persists for life in infected host cells. In children and young people, the primary infection can manifest itself in the form of a clinical syndrome of infectious mononucleosis (IM). Early, accurate and complete results of laboratory tests are vital for timely diagnosis, appropriate treatment and cure. A key challenge for the physician, in cases where the

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